ClinVar Miner

Submissions for variant NM_000218.3(KCNQ1):c.1827C>T (p.Ile609=)

gnomAD frequency: 0.00002  dbSNP: rs377553748
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000618662 SCV000737593 likely benign Cardiovascular phenotype 2016-06-15 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV001463968 SCV001667926 likely benign Long QT syndrome 2023-10-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004533276 SCV004708446 likely benign KCNQ1-related disorder 2021-01-20 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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